page_title: Otocephaly
section_title: Signs and symptoms
hierarchical_section_title: Otocephaly / Signs and symptoms
caption_attribution_description: English: Infant with otocephaly, holoprosencephaly and cyclopia with a proboscis
context_page_description: Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible, with the ears fused together just below the chin. It is caused by a disruption to the development of the first branchial arch. It occurs in every 1 in 70,000 embryos.
context_section_description: The disorder is characterised by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). In addition to agnathia and synotia, other symptoms that may manifest in otocephaly include:
  Facial/musculoskeletal
  Small (microglossia) or absent (aglossia) tongue
  Small (microstomia) or absent (astomia) mouth
  Cyclopia with proboscis
  Median cleft lip and cleft palate
  Neurological
  Holoprosencephaly
  Agenesis of the corpus callosum
  Anencephaly or other neural tube defects
  Organ systems
  Situs inversus (full rotation of the internal organs)
  Cardiac anomalies
  Ambiguous genitalia
  Absence of glands
caption: Otocephaly with cyclopia and a proboscis
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